Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
| Autor: | Lesley-Ann Sutton, Frederic Davi, Anton W. Langerak, Andreas Agathangelidis, Cristina Tresoldi, Kostas Stamatopoulos, Paolo Ghia, Richard Rosenquist, Anastasia Hadzidimitriou, Chrysoula Belessi |
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| Přispěvatelé: | Agathangelidis, A., Sutton, L. A., Hadzidimitriou, A., Tresoldi, C., Langerak, A. W., Belessi, C., Davi, F., Rosenquist, R., Stamatopoulos, K., Ghia, P., Immunology |
| Rok vydání: | 2018 |
| Předmět: |
Immunoglobulin gene
Sequence analysis Chronic lymphocytic leukemia General Chemical Engineering Immunoglobulin Variable Region Somatic hypermutation Computational biology Cancer research Biology General Biochemistry Genetics and Molecular Biology Issue 141 03 medical and health sciences 0302 clinical medicine Sequence Analysis Protein medicine Immunoglobulin Humans Neoplastic transformation Gene Immunoglobulin heavy variable (IGHV) International immunogenetics information system (IMGT) B cell Medicinsk genetik B-Lymphocytes General Immunology and Microbiology Base Sequence Genes Immunoglobulin General Neuroscience Nucleic acid sequence International ImMunoGene Tics information system (IMGT) medicine.disease Leukemia Lymphocytic Chronic B-Cell Chronic lymphocytic leukemia (CLL) Complementarity determining region 3 (CDR3) medicine.anatomical_structure 030220 oncology & carcinogenesis Somatic hypermutation (SHM) Medical Genetics 030215 immunology |
| Zdroj: | Journal of Visualized Experiments (JoVE), 141:e57787. MYJoVE Corporation |
| ISSN: | 1940-087X |
| Popis: | During B cell maturation, the complex process of immunoglobulin (IG) gene V(D)J recombination coupled with somatic hypermutation (SHM) gives rise to a unique DNA sequence within each individual B cell. Since B cell malignancies result from the clonal expansion of a single cell, IG genes represent a unique molecular signature common to all the malignant cells within an individual patient; thus, IG gene rearrangements can be used as clonal markers. In addition to serving as an important clonal identifier, the IG gene sequence can act as a 'molecular timeline' since it is associated with specific developmental stages and hence reflects the history of the B cell involved in the neoplastic transformation. Moreover, for certain malignancies, in particular chronic lymphocytic leukemia (CLL), the IG gene sequence holds prognostic and potentially predictive capabilities. That said, extrapolating meaningful conclusions from IG gene sequence analysis would be impossible if robust methods and tools were not available to aid in their analysis. This article, drawing on the vast experience of the European Research Initiative on CLL (ERIC), details the technical aspects and essential requirements necessary to ensure reliable and reproducible IG gene sequence analysis in CLL, a test that is now recommended for all CLL patients prior to treatment. More specifically, the various analytical stages are described ranging from the identification of the clonotypic IG gene rearrangement and the determination of the nucleotide sequence to the accurate clinical interpretation of the IG gene sequence data. De två första författarna delar förstaförfattarskapet. |
| Databáze: | OpenAIRE |
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